ClinVar Miner

Submissions for variant NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)

gnomAD frequency: 0.00001  dbSNP: rs370465436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040626 SCV002298558 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with VEGFC-related conditions. This variant is present in population databases (rs370465436, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 386 of the VEGFC protein (p.Arg386Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Mendelics RCV002246655 SCV002516724 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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